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  1. 2001
    Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report
    “..., cardiomyopathy, dystonia, and lactic acidosis. In this study, we report two novel heterogeneous variants, c.414...”
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    Article
  2. 2002
    The aristaless-related homeobox gene, ARX, during the forebrain development : its crucial role in the organization and differentiation of the ventral telencephalon
    by Colombo, Elena
    Published 2007
    “...), dystonia (Bienvenu et al., 2002) and X-linked lissencephaly with ambiguous genitalia (XLAG) (Kitamura et al...”
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  3. 2003
    Kudikių sutrikusios motorinės raidos kaita taikant kineziterapiją
    by Maslenikovienė, Renata
    Published 2011
    “... different kinds of motor development disorders: hypertonia, hypotension, dystonia. The follovving methods...”
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    Dissertation
  4. 2004
    Ironing out the pathophysiology of neurodegeneration with brain iron accumulation (NBIA) : clinical investigations and disease modelling yield novel evidence of systemic dysfunction and provide a robust and accurate disease model of NBIA
    by Minkley, Michael
    Published 2018
    “... of motor symptoms (Barry-Albright Dystonia Rating Scale) making them potential candidates markers...”
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    Others
  5. 2005
    Alternating Hemiplegia of Childhood: Genotype–Phenotype Correlations in a Cohort of 39 Italian Patients
    “...815Lys and p.Asp801Asn mutations), epilepsy, and a more severe grade of dystonia (p < 0.05...”
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    Article
  6. 2006
    Clinical Variability of SYNJ1-Associated Early-Onset Parkinsonism
    “.... The patient with both the previously unknown p.D791fs and p.Y232H mutations presented with dystonia...”
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    Article
  7. 2007
    A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood
    “... characterized by generalized dystonia within the first decade of their lives. Cerebral computed tomography (CT...”
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    Article
  8. 2008
    Elucidating the molecular and biophysical determinants that suppress Ca2+-dependent facilitation of Cav2.2 Ca2+ channels
    by Thomas, Jessica René
    Published 2018
    “.... This knowledge can be used to treat neurological disorders, such as chronic pain and Myoclonus- Dystonia syndrome...”
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    Others
  9. 2009
    Neither a Novel Tau Proteinopathy nor an Expansion of a Phenotype: Reappraising Clinicopathology-Based Nosology
    “...-year-old woman with a 7-year history of a progressive dystonia–ataxia syndrome with supranuclear gaze...”
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    Article
  10. 2010
    Early infantile epileptic encephalopathy type 16: the new clinical and genetic variant of TBC1D24 gene mutation
    “... to progressive myoclonic epilepsy with dystonia (PMED), which indicates the nosological autonomy of this form...”
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    Article
  11. 2011
    Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome
    “...), which is characterised by sensorineural hearing loss, dystonia and blindness. Nothing is known about...”
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    Article
  12. 2012
    Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives
    “... characterized by progressive spasticity, dystonia, muscle rigidity, neuropsychiatric symptoms, and retinal...”
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    Article
  13. 2013
    An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations
    “..., exercise-induced dystonia and congenital lactic acidosis.Here we describe the case of a newborn...”
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    Article
  14. 2014
    Clinical phenotype analysis of paroxysmal kinesigenic dyskinesia
    “... symptom. The percentage of patients manifested as dystonia, chorea and mixed form during episodic attacks...”
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    Article
  15. 2015
    The RNA-Editing Enzyme ADAR1 Controls Innate Immune Responses to RNA
    “...) or dystonia arising from striatal neurodegeneration. Adar1 mutant mouse embryos show aberrant interferon...”
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    Article
  16. 2016
    Valine metabolites analysis in ECHS1 deficiency
    “... in mitochondria and its deficiency causes Leigh syndrome or exercise-induced dystonia. More than 60 patients...”
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    Article
  17. 2017
    Development of the Human Hand Motor Control Assessment and Continuous Passive Motion Rehabilitation Training System
    by Chih-zen Chang, 張智仁
    Published 2000
    “... individuals and 26 patients with focal dystonia (such as patients with writer''s cramp). Tests were conducted...”
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    Others
  18. 2018
    Studies of Machado-Joseph Disease Protein in Human Neuroblastoma cells
    by Yen-Hsien Li, 李彥賢
    Published 2000
    “... and extrapyramidal signs, dystonia with rigidity, and distal muscular atrophies. Unstable CAG trinucleotide repeat...”
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    Others
  19. 2019
    EXERCÍCIOS DE EMBOCADURA E TÉCNICA EXPANDIDA: estratégia de tratamento paralelo para a Distonia Focal de Tarefa Específica da Embocadura (DFTEE) de um tubista
    by Aquino, Gian
    Published 2018
    “... ocasiona perda do controle muscular. === The Focal Dystonia in Musicians (FDM) has been investigated...”
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  20. 2020
    Gene Therapy in Movement Disorders: A Systematic Review of Ongoing and Completed Clinical Trials
    “..., multiple system atrophy (MSA), progressive supranuclear palsy (PSP), dystonia, tremor, ataxia, and other...”
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    Article
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